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1.

rs1491583693 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->AG [Show Flanks]
    Chromosome:
    17:43530921 (GRCh38)
    17:41608290 (GRCh37)
    Canonical SPDI:
    NC_000017.11:43530921:G:GAG
    Gene:
    DHX8 (Varview), ETV4 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    GAG=0./0 (ALFA)
    GA=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1491541845 has merged into rs34924870 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      17:43538150 (GRCh38)
      17:41615518 (GRCh37)
      Canonical SPDI:
      NC_000017.11:43538140:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:43538140:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:43538140:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:43538140:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:43538140:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:43538140:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:43538140:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:43538140:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:43538140:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:43538140:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:43538140:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43538140:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
      Gene:
      DHX8 (Varview), ETV4 (Varview)
      Functional Consequence:
      upstream_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAA=0./0 (ALFA)
      -=0.1367/527 (ALSPAC)
      A=0.3648/1827 (1000Genomes)
      HGVS:
      NC_000017.11:g.43538150_43538159del, NC_000017.11:g.43538151_43538159del, NC_000017.11:g.43538152_43538159del, NC_000017.11:g.43538153_43538159del, NC_000017.11:g.43538154_43538159del, NC_000017.11:g.43538156_43538159del, NC_000017.11:g.43538157_43538159del, NC_000017.11:g.43538158_43538159del, NC_000017.11:g.43538159del, NC_000017.11:g.43538159dup, NC_000017.11:g.43538158_43538159dup, NC_000017.11:g.43538157_43538159dup, NC_000017.10:g.41615518_41615527del, NC_000017.10:g.41615519_41615527del, NC_000017.10:g.41615520_41615527del, NC_000017.10:g.41615521_41615527del, NC_000017.10:g.41615522_41615527del, NC_000017.10:g.41615524_41615527del, NC_000017.10:g.41615525_41615527del, NC_000017.10:g.41615526_41615527del, NC_000017.10:g.41615527del, NC_000017.10:g.41615527dup, NC_000017.10:g.41615526_41615527dup, NC_000017.10:g.41615525_41615527dup
      3.

      rs1491372041 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        AC>- [Show Flanks]
        Chromosome:
        17:43545933 (GRCh38)
        17:41623301 (GRCh37)
        Canonical SPDI:
        NC_000017.11:43545932:AC:
        Gene:
        DHX8 (Varview), ETV4 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0.00034/4 (ALFA)
        HGVS:
        4.

        rs1491323439 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->CG [Show Flanks]
          Chromosome:
          17:43545933 (GRCh38)
          17:41623302 (GRCh37)
          Canonical SPDI:
          NC_000017.11:43545933:CG:CGCG
          Gene:
          DHX8 (Varview), ETV4 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          CGCG=0./0 (ALFA)
          CG=0.0003/19 (GnomAD)
          HGVS:
          5.

          rs1491244923 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CA>- [Show Flanks]
            Chromosome:
            17:43538140 (GRCh38)
            17:41615508 (GRCh37)
            Canonical SPDI:
            NC_000017.11:43538139:CA:
            Gene:
            DHX8 (Varview), ETV4 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0./0 (ALFA)
            -=0.00003/2 (GnomAD)
            HGVS:
            6.

            rs1491131383 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TG>- [Show Flanks]
              Chromosome:
              17:43530923 (GRCh38)
              17:41608291 (GRCh37)
              Canonical SPDI:
              NC_000017.11:43530920:TGTG:TG
              Gene:
              DHX8 (Varview), ETV4 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TGTG=0./0 (ALFA)
              -=0.000004/1 (TOPMED)
              -=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1491064287 has merged into rs60214474 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TCTCTCTC>-,TC,TCTC,TCTCTC,TCTCTCTCTC,TCTCTCTCTCTC,TCTCTCTCTCTCTC,TCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC [Show Flanks]
                Chromosome:
                17:43543290 (GRCh38)
                17:41620658 (GRCh37)
                Canonical SPDI:
                NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTC,NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTC,NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTC,NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTC,NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTC,NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTC,NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000017.11:43543276:CTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC
                Gene:
                DHX8 (Varview), ETV4 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                CTCTCTCTCTCTCTC=0./0 (ALFA)
                CTCT=0.3744/1875 (1000Genomes)
                HGVS:
                NC_000017.11:g.43543278TC[6], NC_000017.11:g.43543278TC[7], NC_000017.11:g.43543278TC[8], NC_000017.11:g.43543278TC[9], NC_000017.11:g.43543278TC[11], NC_000017.11:g.43543278TC[12], NC_000017.11:g.43543278TC[13], NC_000017.11:g.43543278TC[14], NC_000017.11:g.43543278TC[15], NC_000017.11:g.43543278TC[16], NC_000017.11:g.43543278TC[17], NC_000017.11:g.43543278TC[18], NC_000017.11:g.43543278TC[19], NC_000017.11:g.43543278TC[20], NC_000017.11:g.43543278TC[21], NC_000017.11:g.43543278TC[22], NC_000017.11:g.43543278TC[23], NC_000017.11:g.43543278TC[24], NC_000017.10:g.41620646TC[6], NC_000017.10:g.41620646TC[7], NC_000017.10:g.41620646TC[8], NC_000017.10:g.41620646TC[9], NC_000017.10:g.41620646TC[11], NC_000017.10:g.41620646TC[12], NC_000017.10:g.41620646TC[13], NC_000017.10:g.41620646TC[14], NC_000017.10:g.41620646TC[15], NC_000017.10:g.41620646TC[16], NC_000017.10:g.41620646TC[17], NC_000017.10:g.41620646TC[18], NC_000017.10:g.41620646TC[19], NC_000017.10:g.41620646TC[20], NC_000017.10:g.41620646TC[21], NC_000017.10:g.41620646TC[22], NC_000017.10:g.41620646TC[23], NC_000017.10:g.41620646TC[24], XM_047435514.1:c.*240TC[6], XM_047435514.1:c.*240TC[7], XM_047435514.1:c.*240TC[8], XM_047435514.1:c.*240TC[9], XM_047435514.1:c.*240TC[11], XM_047435514.1:c.*240TC[12], XM_047435514.1:c.*240TC[13], XM_047435514.1:c.*240TC[14], XM_047435514.1:c.*240TC[15], XM_047435514.1:c.*240TC[16], XM_047435514.1:c.*240TC[17], XM_047435514.1:c.*240TC[18], XM_047435514.1:c.*240TC[19], XM_047435514.1:c.*240TC[20], XM_047435514.1:c.*240TC[21], XM_047435514.1:c.*240TC[22], XM_047435514.1:c.*240TC[23], XM_047435514.1:c.*240TC[24]
                8.

                rs1491056166 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->TG,TGTG,TGTGTGTG [Show Flanks]
                  Chromosome:
                  17:43530605 (GRCh38)
                  17:41607974 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:43530605:G:GTG,NC_000017.11:43530605:G:GTGTG,NC_000017.11:43530605:G:GTGTGTGTG
                  Gene:
                  DHX8 (Varview), ETV4 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  GTGTG=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1490848271 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    17:43529696 (GRCh38)
                    17:41607064 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:43529695:G:A
                    Gene:
                    DHX8 (Varview), ETV4 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1490811644 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      17:43543207 (GRCh38)
                      17:41620575 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:43543206:T:A
                      Gene:
                      DHX8 (Varview), ETV4 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1490778266 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        17:43545999 (GRCh38)
                        17:41623367 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:43545998:G:A
                        Gene:
                        DHX8 (Varview), ETV4 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1490745474 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          17:43532293 (GRCh38)
                          17:41609661 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:43532292:G:A
                          Gene:
                          DHX8 (Varview), ETV4 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1490628559 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            17:43546141 (GRCh38)
                            17:41623509 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:43546140:G:A
                            Gene:
                            DHX8 (Varview), ETV4 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1490593163 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              17:43543075 (GRCh38)
                              17:41620443 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:43543074:C:T
                              Gene:
                              DHX8 (Varview), ETV4 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              T=0.000011/3 (TOPMED)
                              T=0.000685/2 (KOREAN)
                              HGVS:
                              15.

                              rs1490490801 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C,G [Show Flanks]
                                Chromosome:
                                17:43539082 (GRCh38)
                                17:41616450 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:43539081:A:C,NC_000017.11:43539081:A:G
                                Gene:
                                DHX8 (Varview), ETV4 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                G=0.000071/1 (TOMMO)
                                HGVS:
                                16.

                                rs1490413022 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  17:43528193 (GRCh38)
                                  17:41605561 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:43528192:C:G,NC_000017.11:43528192:C:T
                                  Gene:
                                  DHX8 (Varview), ETV4 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000014/2 (GnomAD)
                                  HGVS:
                                  NC_000017.11:g.43528193C>G, NC_000017.11:g.43528193C>T, NC_000017.10:g.41605561C>G, NC_000017.10:g.41605561C>T, NM_001079675.5:c.*326G>C, NM_001079675.5:c.*326G>A, NM_001079675.4:c.*326G>C, NM_001079675.4:c.*326G>A, NM_001079675.3:c.*326G>C, NM_001079675.3:c.*326G>A, NM_001079675.2:c.*326G>C, NM_001079675.2:c.*326G>A, NM_001986.4:c.*326G>C, NM_001986.4:c.*326G>A, NM_001986.3:c.*326G>C, NM_001986.3:c.*326G>A, NM_001986.2:c.*326G>C, NM_001986.2:c.*326G>A, NM_001261437.3:c.*326G>C, NM_001261437.3:c.*326G>A, NM_001261437.2:c.*326G>C, NM_001261437.2:c.*326G>A, NM_001261437.1:c.*326G>C, NM_001261437.1:c.*326G>A, NM_001261438.3:c.*326G>C, NM_001261438.3:c.*326G>A, NM_001261438.2:c.*326G>C, NM_001261438.2:c.*326G>A, NM_001261438.1:c.*326G>C, NM_001261438.1:c.*326G>A, NM_001261439.3:c.*326G>C, NM_001261439.3:c.*326G>A, NM_001261439.2:c.*326G>C, NM_001261439.2:c.*326G>A, NM_001261439.1:c.*326G>C, NM_001261439.1:c.*326G>A, NM_001369366.2:c.*326G>C, NM_001369366.2:c.*326G>A, NM_001369366.1:c.*326G>C, NM_001369366.1:c.*326G>A, NM_001369367.2:c.*326G>C, NM_001369367.2:c.*326G>A, NM_001369367.1:c.*326G>C, NM_001369367.1:c.*326G>A, NM_001369368.2:c.*326G>C, NM_001369368.2:c.*326G>A, NM_001369368.1:c.*326G>C, NM_001369368.1:c.*326G>A, XM_047435593.1:c.*326G>C, XM_047435593.1:c.*326G>A, XM_047435592.1:c.*326G>C, XM_047435592.1:c.*326G>A
                                  17.

                                  rs1490216762 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    17:43541128 (GRCh38)
                                    17:41618496 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:43541127:G:T
                                    Gene:
                                    DHX8 (Varview), ETV4 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    19.

                                    rs1489313338 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      17:43539120 (GRCh38)
                                      17:41616488 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:43539119:A:T
                                      Gene:
                                      DHX8 (Varview), ETV4 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      20.

                                      rs1489244309 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        17:43530880 (GRCh38)
                                        17:41608248 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:43530879:C:T
                                        Gene:
                                        DHX8 (Varview), ETV4 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                                        HGVS:

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